Canonical Allele Identifier: CA472769826

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1619833
• ClinVar RCV Id: RCV002084538
• dbSNP Id: rs1315475423
• gnomAD v2: 11-6635915-T-C
• gnomAD v3: 11-6614684-T-C
• gnomAD v4: 11-6614684-T-C
• MyVariant Identifiers: chr11:g.6635915T>C (hg19) ; chr11:g.6614684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614684T>C , CM000673.2:g.6614684T>C	GRCh38
NC_000011.9:g.6635915T>C , CM000673.1:g.6635915T>C	GRCh37
NC_000011.8:g.6592491T>C	NCBI36
NG_008653.1:g.9778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1440A>G	ENSP00000507321.1:p.Val480=
ENST00000299427.12:c.1554A>G MANE Select	ENSP00000299427.6:p.Val518=
ENST00000524611.2:n.593A>G
ENST00000524924.2:n.674A>G
ENST00000533371.6:c.825A>G	ENSP00000437066.1:p.Val275=
ENST00000642892.1:c.825A>G	ENSP00000494165.1:p.Val275=
ENST00000643342.1:c.627A>G
ENST00000643439.1:c.*1294A>G	ENSP00000495849.1:n.*1294A>G
ENST00000643479.1:n.1740A>G
ENST00000643516.1:c.1063A>G
ENST00000644218.1:c.1365A>G	ENSP00000493574.1:p.Val455=
ENST00000644683.1:c.*1007A>G	ENSP00000494085.1:n.*1007A>G
ENST00000644810.1:c.1275A>G	ENSP00000495895.1:p.Val425=
ENST00000644831.1:n.1730A>G
ENST00000644933.1:c.*420A>G	ENSP00000496133.1:n.*420A>G
ENST00000645285.1:c.*420A>G	ENSP00000495058.1:n.*420A>G
ENST00000645331.1:n.2759A>G
ENST00000645620.1:c.825A>G	ENSP00000493657.1:p.Val275=
ENST00000646691.1:n.1441A>G
ENST00000646777.1:n.1887A>G
ENST00000647016.1:n.2034A>G
ENST00000647152.1:c.825A>G	ENSP00000495893.1:p.Val275=
ENST00000647209.1:c.*1423A>G	ENSP00000495558.1:n.*1423A>G
ENST00000647346.1:n.2574A>G
ENST00000299427.10:c.1554A>G	ENSP00000299427.6:p.Val518=
ENST00000524611.1:n.432A>G
ENST00000533371.5:c.825A>G	ENSP00000437066.1:p.Val275=
ENST00000611494.4:c.1554A>G	ENSP00000484546.1:p.Val518=
NM_000391.3:c.1554A>G	NP_000382.3:p.Val518=
NM_000391.4:c.1554A>G MANE Select	NP_000382.3:p.Val518=